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一对智力明显不同的同卵双胞胎中脆性X染色体fra(X)(q27 - 28)的频率及复制状态。

Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence.

作者信息

Tuckerman E, Webb T, Bundey S E

出版信息

J Med Genet. 1985 Apr;22(2):85-91. doi: 10.1136/jmg.22.2.85.

Abstract

Chromosome analysis using conventional staining, G banding, and, after BUdR incorporation, two R banding methods, one using Hoechst and one acridine orange, were performed on lymphocytes from a pair of female monozygotic twins. The culture conditions were designed to show the presence of the fragile X (q27-28) which had previously been found to be segregating in the family. One twin was of higher than normal intelligence and the other had been diagnosed as mentally retarded. The frequency of the occurrence of the early/active fragile X compared to the overall total of informative fragile X was determined using both methods described above and was also compared with previous published data in the form of a graph showing percentage of early/active fragile X against intelligence.

摘要

运用传统染色、G显带技术,以及在掺入5-溴脱氧尿苷(BUdR)后,采用两种R显带方法(一种使用 Hoechst,另一种使用吖啶橙),对一对女性同卵双胞胎的淋巴细胞进行了染色体分析。培养条件旨在显示脆性X(q27 - 28)的存在,此前已发现该脆性X在家族中呈分离状态。其中一个双胞胎智力高于正常水平,另一个被诊断为智力迟钝。使用上述两种方法确定了早期/活跃型脆性X的发生频率与信息性脆性X总数的比例,并与之前以图表形式发表的数据进行了比较,该图表展示了早期/活跃型脆性X的百分比与智力的关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/84b8/1049390/245f07bbcc18/jmedgene00094-0006-a.jpg

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